MGP Database

New search | Record Overview | Ontology/Pathway Information | Domain Information | UniProt Annotations | Related Proteins
MGP004391

UniProt Annotations

Entry Information
Gene NameMALT1 paracaspase
Protein EntryMALT1_HUMAN
UniProt IDQ9UDY8
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9UDY8-1; Sequence=Displayed; Name=2; IsoId=Q9UDY8-2; Sequence=VSP_000844;
DiseaseImmunodeficiency 12 (IMD12) [MIM:615468]: A primary immunodeficiency characterized by onset in infancy of recurrent bacterial and candidal infections resulting in bronchiectasis and growth delay. Manifestations include mastoiditis, aphthous ulcers, cheilitis, gingivitis, esophagitis, gastritis, duodenitis, and meningitis. Levels of absolute lymphocytes and serum immunoglobulins are normal, but specific antibody titers are low despite immunization, and T-cells show impaired proliferative responses to mitogens. {ECO:0000269|PubMed:23727036}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DiseaseNote=A chromosomal aberration involving MALT1 is recurrent in low-grade mucosa-associated lymphoid tissue (MALT lymphoma). Translocation t(11;18)(q21;q21) with BIRC2. This translocation is found in approximately 50% of cytogenetically abnormal low-grade MALT lymphoma.
FunctionEnhances BCL10-induced activation of NF-kappa-B. Involved in nuclear export of BCL10. Binds to TRAF6, inducing TRAF6 oligomerization and activation of its ligase activity. Has ubiquitin ligase activity. MALT1-dependent BCL10 cleavage plays an important role in T-cell antigen receptor-induced integrin adhesion. {ECO:0000269|PubMed:11262391, ECO:0000269|PubMed:14695475, ECO:0000269|PubMed:18264101}.
InteractionO95999:BCL10; NbExp=12; IntAct=EBI-1047372, EBI-958922; Q14790:CASP8; NbExp=10; IntAct=EBI-1047372, EBI-78060; Q9Y6K9:IKBKG; NbExp=2; IntAct=EBI-1047372, EBI-81279; Q13501:SQSTM1; NbExp=2; IntAct=EBI-1047372, EBI-307104; Q9Y4K3:TRAF6; NbExp=3; IntAct=EBI-1047372, EBI-359276; P0CG48:UBC; NbExp=4; IntAct=EBI-1047372, EBI-3390054;
SimilarityBelongs to the peptidase C14B family. {ECO:0000305}.
SimilarityContains 1 death domain. {ECO:0000305}.
SimilarityContains 2 Ig-like C2-type (immunoglobulin-like) domains. {ECO:0000305}.
Subcellular LocationCytoplasm, perinuclear region {ECO:0000269|PubMed:16123224}. Nucleus {ECO:0000269|PubMed:16123224}. Note=Shuttles between the nucleus and cytoplasm. Found in perinuclear structures together with BCL10.
SubunitBinds through its Ig-like domains to BCL10. Forms oligomers which bind to TRAF6.
Tissue SpecificityHighly expressed in peripheral blood mononuclear cells. Detected at lower levels in bone marrow, thymus and lymph node, and at very low levels in colon and lung.
Web ResourceName=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/MALT1ID240.html";
  logo